Canonical Allele Identifier: CA390566240

Gene: ZC3H14

Linked Data

• gnomAD v4: 14-88610906-C-T
• COSMIC: COSM1678182 ; COSM1678183
• MyVariant Identifiers: chr14:g.89077250C>T (hg19) ; chr14:g.88610906C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88610906C>T , CM000676.2:g.88610906C>T	GRCh38
NC_000014.8:g.89077250C>T , CM000676.1:g.89077250C>T	GRCh37
NC_000014.7:g.88147003C>T	NCBI36
NG_050601.1:g.52998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251038.10:c.2170C>T MANE Select	ENSP00000251038.5:p.Arg724Ter
ENST00000649731.1:c.*1378C>T	ENSP00000497757.1:n.*1378C>T
ENST00000251038.9:c.2170C>T	ENSP00000251038.5:p.Arg724Ter
ENST00000302216.12:c.1699C>T	ENSP00000307025.8:p.Arg567Ter
ENST00000318308.10:c.880C>T	ENSP00000327176.6:p.Arg294Ter
ENST00000336693.8:c.1675C>T	ENSP00000338002.4:p.Arg559Ter
ENST00000393514.9:c.2095C>T	ENSP00000377150.5:p.Arg699Ter
ENST00000406216.7:c.808C>T	ENSP00000384682.3:p.Arg270Ter
ENST00000554020.5:n.1013C>T
ENST00000555755.5:c.2152C>T	ENSP00000452475.1:p.Arg718Ter
ENST00000555792.1:c.415C>T	ENSP00000450823.1:p.Arg139Ter
ENST00000555851.6:n.329C>T
ENST00000555900.5:c.1276C>T	ENSP00000451530.1:p.Arg426Ter
ENST00000556000.5:c.1914C>T
ENST00000556945.5:c.1777C>T	ENSP00000450474.1:p.Arg593Ter
ENST00000557491.1:n.1455C>T
ENST00000557607.5:c.1222C>T	ENSP00000452370.1:p.Arg408Ter
NM_001160103.1:c.2167C>T	NP_001153575.1:p.Arg723Ter
NM_001160104.1:c.2152C>T	NP_001153576.1:p.Arg718Ter
NM_024824.4:c.2170C>T	NP_079100.2:p.Arg724Ter
NM_207660.3:c.1699C>T	NP_997543.1:p.Arg567Ter
NM_207661.2:c.1675C>T	NP_997544.1:p.Arg559Ter
NM_207662.3:c.880C>T	NP_997545.2:p.Arg294Ter
XM_005268067.3:c.2155C>T	XP_005268124.1:p.Arg719Ter
XM_005268068.3:c.2095C>T	XP_005268125.1:p.Arg699Ter
XM_005268069.3:c.1777C>T	XP_005268126.1:p.Arg593Ter
XM_005268070.3:c.1774C>T	XP_005268127.1:p.Arg592Ter
XM_005268071.3:c.1702C>T	XP_005268128.1:p.Arg568Ter
XM_005268073.3:c.1276C>T	XP_005268130.1:p.Arg426Ter
XM_006720257.2:c.1201C>T	XP_006720320.1:p.Arg401Ter
XM_011537160.1:c.2068C>T	XP_011535462.1:p.Arg690Ter
XM_011537161.1:c.2014C>T	XP_011535463.1:p.Arg672Ter
NM_001326295.1:c.1777C>T	NP_001313224.1:p.Arg593Ter
NM_001326296.1:c.2092C>T	NP_001313225.1:p.Arg698Ter
NM_001326297.1:c.2068C>T	NP_001313226.1:p.Arg690Ter
NM_001326298.1:c.1702C>T	NP_001313227.1:p.Arg568Ter
NM_001326299.1:c.2077C>T	NP_001313228.1:p.Arg693Ter
NM_001326300.1:c.1705C>T	NP_001313229.1:p.Arg569Ter
NM_001326301.1:c.1993C>T	NP_001313230.1:p.Arg665Ter
NM_001326302.1:c.1702C>T	NP_001313231.1:p.Arg568Ter
NM_001326303.1:c.1597C>T	NP_001313232.1:p.Arg533Ter
NM_001326304.1:c.1309C>T	NP_001313233.1:p.Arg437Ter
NM_001326305.1:c.1630C>T	NP_001313234.1:p.Arg544Ter
NM_001326306.1:c.1543C>T	NP_001313235.1:p.Arg515Ter
NM_001326307.1:c.2095C>T	NP_001313236.1:p.Arg699Ter
NM_001326308.1:c.1312C>T	NP_001313237.1:p.Arg438Ter
NM_001326309.1:c.1237C>T	NP_001313238.1:p.Arg413Ter
NM_001326310.1:c.2155C>T	NP_001313239.1:p.Arg719Ter
NM_001326311.1:c.1234C>T	NP_001313240.1:p.Arg412Ter
NM_001326312.1:c.2080C>T	NP_001313241.1:p.Arg694Ter
NM_001326313.1:c.1546C>T	NP_001313242.1:p.Arg516Ter
NM_001326314.1:c.1627C>T	NP_001313243.1:p.Arg543Ter
NM_001326315.1:c.2065C>T	NP_001313244.1:p.Arg689Ter
NM_001326316.1:c.2065C>T	NP_001313245.1:p.Arg689Ter
NR_136936.1:n.2235C>T
XM_005268070.5:c.1774C>T	XP_005268127.1:p.Arg592Ter
XM_005268073.4:c.1276C>T	XP_005268130.1:p.Arg426Ter
XM_006720257.3:c.1201C>T	XP_006720320.1:p.Arg401Ter
XM_011537161.3:c.2014C>T	XP_011535463.1:p.Arg672Ter
XM_024449713.1:c.1198C>T	XP_024305481.1:p.Arg400Ter
NM_024824.5:c.2170C>T MANE Select	NP_079100.2:p.Arg724Ter
NM_001160103.2:c.2167C>T	NP_001153575.1:p.Arg723Ter
NM_001160104.2:c.2152C>T	NP_001153576.1:p.Arg718Ter
NM_001326295.2:c.1777C>T	NP_001313224.1:p.Arg593Ter
NM_001326296.2:c.2092C>T	NP_001313225.1:p.Arg698Ter
NM_001326297.2:c.2068C>T	NP_001313226.1:p.Arg690Ter
NM_001326298.2:c.1702C>T	NP_001313227.1:p.Arg568Ter
NM_001326299.2:c.2077C>T	NP_001313228.1:p.Arg693Ter
NM_001326300.2:c.1705C>T	NP_001313229.1:p.Arg569Ter
NM_001326301.2:c.1993C>T	NP_001313230.1:p.Arg665Ter
NM_001326302.2:c.1702C>T	NP_001313231.1:p.Arg568Ter
NM_001326303.2:c.1597C>T	NP_001313232.1:p.Arg533Ter
NM_001326304.2:c.1309C>T	NP_001313233.1:p.Arg437Ter
NM_001326305.2:c.1630C>T	NP_001313234.1:p.Arg544Ter
NM_001326306.2:c.1543C>T	NP_001313235.1:p.Arg515Ter
NM_001326307.2:c.2095C>T	NP_001313236.1:p.Arg699Ter
NM_001326308.2:c.1312C>T	NP_001313237.1:p.Arg438Ter
NM_001326309.2:c.1237C>T	NP_001313238.1:p.Arg413Ter
NM_001326310.2:c.2155C>T	NP_001313239.1:p.Arg719Ter
NM_001326311.2:c.1234C>T	NP_001313240.1:p.Arg412Ter
NM_001326312.2:c.2080C>T	NP_001313241.1:p.Arg694Ter
NM_001326313.2:c.1546C>T	NP_001313242.1:p.Arg516Ter
NM_001326314.2:c.1627C>T	NP_001313243.1:p.Arg543Ter
NM_001326315.2:c.2065C>T	NP_001313244.1:p.Arg689Ter
NM_207660.4:c.1699C>T	NP_997543.1:p.Arg567Ter
NM_207662.4:c.880C>T	NP_997545.2:p.Arg294Ter
NR_136936.2:n.2107C>T
NM_001326316.2:c.2065C>T	NP_001313245.1:p.Arg689Ter
NM_207661.3:c.1675C>T	NP_997544.1:p.Arg559Ter